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    PLEKHB1 pleckstrin homology domain containing B1 [ Homo sapiens (human) ]

    Gene ID: 58473, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PLEKHB1provided by HGNC
    Official Full Name
    pleckstrin homology domain containing B1provided by HGNC
    Primary source
    HGNC:HGNC:19079
    See related
    Ensembl:ENSG00000021300 MIM:607651; AllianceGenome:HGNC:19079
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KPL1; PHR1; PHRET1
    Summary
    Predicted to enable protein homodimerization activity. Predicted to be involved in regulation of cell differentiation. Located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in brain (RPKM 91.0), thyroid (RPKM 7.0) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLEKHB1 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (73646581..73662819)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (73575709..73591948)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73357626..73373864)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 168 member A Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73308491-73309219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3745 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 38 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73336706-73337222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73337223-73337737 Neighboring gene MIA SH3 domain ER export factor 2 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73357191-73358109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5239 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr11:73371326-73372170 and GRCh37_chr11:73372171-73373013 Neighboring gene musashi RNA binding protein 1 pseudogene Neighboring gene RAB6A, member RAS oncogene family Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73461590-73462090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73462091-73462591 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73471270-73471770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3747 Neighboring gene uncharacterized LOC124902711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3748

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. PHR1 is a vesicle-bound protein abundantly expressed in mature olfactory neurons. Tan B, et al. Laryngoscope, 2010 May. PMID 20301200
    2. In vitro interaction between coxsackievirus B3 VP1 protein and human pleckstrin homology domain retinal protein (PHR1). Zhou Y, et al. Virus Genes, 2015 Oct. PMID 26318175
    3. KPL1, which encodes a novel PH domain-containing protein, is induced during ciliated cell differentiation of rat tracheal epithelial cells. Andrews KL, et al. Exp Lung Res, 2000 Jun. PMID 10923244
    4. Wallerian degeneration: an emerging axon death pathway linking injury and disease. Conforti L, et al. Nat Rev Neurosci, 2014 Jun. PMID 24840802
    5. Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. Lesch KP, et al. Mol Psychiatry, 2011 May. PMID 20308990

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The human PHR1, a PH domain-containing protein with low expression in the heart and high expression in the brain, interacts with coxsackievirus B3 VP1, a major structural protein of coxsackievirus B3.
      Title: In vitro interaction between coxsackievirus B3 VP1 protein and human pleckstrin homology domain retinal protein (PHR1).
    2. Rapid Wallerian degeneration requires the pro-degenerative molecules PHR1.
      Title: Wallerian degeneration: an emerging axon death pathway linking injury and disease.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    5. Phr1 is widely and abundantly expressed throughout mature olfactory neurons and other primary sensory neurons, but its absence does not appear to affect olfactory morphology, regeneration, sensory function, or adaptation.
      Title: PHR1 is a vesicle-bound protein abundantly expressed in mature olfactory neurons.
    6. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phototransduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family B member 1
    Names
    PH domain containing, retinal 1
    PH domain-containing family B member 1
    PH domain-containing protein in retina 1
    evectin-1
    pleckstrin homology domain containing, family B (evectins) member 1
    pleckstrin homology domain retinal protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001130033.2 → NP_001123505.1  pleckstrin homology domain-containing family B member 1 isoform c

      See identical proteins and their annotated locations for NP_001123505.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon, compared to variant 1. It encodes isoform c, which is shorter than isoform a.
      Source sequence(s)
      AP000860, AP002993
      Consensus CDS
      CCDS44673.1
      UniProtKB/TrEMBL
      Q59EU5
      Related
      ENSP00000381505.4, ENST00000398492.8
      Conserved Domains (2) summary
      cd13265
      Location:20 → 127
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:22 → 126
      PH; PH domain

    2. NM_001130034.2 → NP_001123506.1  pleckstrin homology domain-containing family B member 1 isoform b

      See identical proteins and their annotated locations for NP_001123506.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the 5' CDS and 5' UTR resulting in use of a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AP000860, AP002993
      Consensus CDS
      CCDS44674.1
      UniProtKB/TrEMBL
      Q59EU5
      Related
      ENSP00000381507.4, ENST00000398494.8
      Conserved Domains (2) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:3 → 107
      PH; PH domain

    3. NM_001130035.2 → NP_001123507.1  pleckstrin homology domain-containing family B member 1 isoform d

      See identical proteins and their annotated locations for NP_001123507.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon and includes an alternate exon in the 5' CDS and 5' UTR resulting in use of a downstream start codon, compared to variant 1. It encodes isoform d, which shorter than isoform a.
      Source sequence(s)
      AP000860, AP002993
      Consensus CDS
      CCDS44675.1
      UniProtKB/TrEMBL
      Q59EU5
      Related
      ENSP00000227214.6, ENST00000227214.10
      Conserved Domains (2) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:3 → 107
      PH; PH domain

    4. NM_001130036.2 → NP_001123508.1  pleckstrin homology domain-containing family B member 1 isoform d

      See identical proteins and their annotated locations for NP_001123508.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an in-frame exon and includes an alternate exon in the 5' CDS and 5' UTR resulting in use of a downstream start codon, compared to variant 1. It encodes isoform d, which shorter than isoform a.
      Source sequence(s)
      AP000860, AP002993
      Consensus CDS
      CCDS44675.1
      UniProtKB/TrEMBL
      Q59EU5
      Related
      ENSP00000442616.1, ENST00000535129.5
      Conserved Domains (2) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:3 → 107
      PH; PH domain

    5. NM_021200.3 → NP_067023.1  pleckstrin homology domain-containing family B member 1 isoform a

      See identical proteins and their annotated locations for NP_067023.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AP000860, AP002993
      Consensus CDS
      CCDS44672.1
      UniProtKB/Swiss-Prot
      A8K0Q5, B2RBP1, B7Z716, Q9UBF5, Q9UF11, Q9UI37, Q9UI44
      UniProtKB/TrEMBL
      Q59EU5
      Related
      ENSP00000346127.5, ENST00000354190.10
      Conserved Domains (2) summary
      cd13265
      Location:20 → 127
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:22 → 126
      PH; PH domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      73646581..73662819
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545193.3 → XP_011543495.1  pleckstrin homology domain-containing family B member 1 isoform X2

      See identical proteins and their annotated locations for XP_011543495.1

      UniProtKB/TrEMBL
      Q59EU5
      Conserved Domains (2) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:3 → 107
      PH; PH domain

    2. XM_011545192.3 → XP_011543494.1  pleckstrin homology domain-containing family B member 1 isoform X1

      See identical proteins and their annotated locations for XP_011543494.1

      UniProtKB/TrEMBL
      Q59EU5
      Conserved Domains (2) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:3 → 107
      PH; PH domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      73575709..73591948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369566.1 → XP_054225541.1  pleckstrin homology domain-containing family B member 1 isoform X2

    2. XM_054369565.1 → XP_054225540.1  pleckstrin homology domain-containing family B member 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UF11.1 GenPept UniProtKB/Swiss-Prot:Q9UF11

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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